Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55486
Gene name	Presenilin associated rhomboid like
Gene symbol	PARL
Synonyms (NCBI Gene)	PRO2207PSARLPSARL1PSENIP2RHBDS1
Chromosome	3
Chromosome location	3q27.1
Summary	This gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteo

103

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miRTarBase ID	miRNA	Experiments	Reference
MIRT050358	hsa-miR-25-3p	CLASH	23622248
MIRT047666	hsa-miR-10a-5p	CLASH	23622248
MIRT047451	hsa-miR-10b-5p	CLASH	23622248
MIRT035965	hsa-miR-1301-3p	CLASH	23622248
MIRT710888	hsa-miR-3912-3p	HITS-CLIP	19536157
MIRT710887	hsa-miR-6072	HITS-CLIP	19536157
MIRT710886	hsa-miR-6891-3p	HITS-CLIP	19536157
MIRT710885	hsa-miR-452-3p	HITS-CLIP	19536157
MIRT710884	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710883	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT710888	hsa-miR-3912-3p	HITS-CLIP	19536157
MIRT710887	hsa-miR-6072	HITS-CLIP	19536157
MIRT710886	hsa-miR-6891-3p	HITS-CLIP	19536157
MIRT710885	hsa-miR-452-3p	HITS-CLIP	19536157
MIRT710884	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710883	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT710888	hsa-miR-3912-3p	HITS-CLIP	19536157
MIRT710887	hsa-miR-6072	HITS-CLIP	19536157
MIRT710886	hsa-miR-6891-3p	HITS-CLIP	19536157
MIRT710885	hsa-miR-452-3p	HITS-CLIP	19536157
MIRT710884	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710883	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT710888	hsa-miR-3912-3p	HITS-CLIP	19536157
MIRT710887	hsa-miR-6072	HITS-CLIP	19536157
MIRT710886	hsa-miR-6891-3p	HITS-CLIP	19536157
MIRT710885	hsa-miR-452-3p	HITS-CLIP	19536157
MIRT710884	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710883	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT647848	hsa-miR-1276	HITS-CLIP	23824327
MIRT647847	hsa-miR-583	HITS-CLIP	23824327
MIRT647845	hsa-miR-8485	HITS-CLIP	23824327
MIRT647846	hsa-miR-3925-5p	HITS-CLIP	23824327
MIRT647844	hsa-miR-4686	HITS-CLIP	23824327
MIRT647843	hsa-miR-520d-5p	HITS-CLIP	23824327
MIRT647842	hsa-miR-524-5p	HITS-CLIP	23824327
MIRT710888	hsa-miR-3912-3p	HITS-CLIP	19536157
MIRT710887	hsa-miR-6072	HITS-CLIP	19536157
MIRT710886	hsa-miR-6891-3p	HITS-CLIP	19536157
MIRT710885	hsa-miR-452-3p	HITS-CLIP	19536157
MIRT710884	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710883	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT710888	hsa-miR-3912-3p	HITS-CLIP	19536157
MIRT710887	hsa-miR-6072	HITS-CLIP	19536157
MIRT710886	hsa-miR-6891-3p	HITS-CLIP	19536157
MIRT710885	hsa-miR-452-3p	HITS-CLIP	19536157
MIRT710884	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710883	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT710888	hsa-miR-3912-3p	HITS-CLIP	19536157
MIRT710887	hsa-miR-6072	HITS-CLIP	19536157
MIRT710886	hsa-miR-6891-3p	HITS-CLIP	19536157
MIRT710885	hsa-miR-452-3p	HITS-CLIP	19536157
MIRT710884	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710883	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT710888	hsa-miR-3912-3p	HITS-CLIP	19536157
MIRT710887	hsa-miR-6072	HITS-CLIP	19536157
MIRT710886	hsa-miR-6891-3p	HITS-CLIP	19536157
MIRT710885	hsa-miR-452-3p	HITS-CLIP	19536157
MIRT710884	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710883	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT647848	hsa-miR-1276	HITS-CLIP	23824327
MIRT647847	hsa-miR-583	HITS-CLIP	23824327
MIRT647845	hsa-miR-8485	HITS-CLIP	23824327
MIRT647846	hsa-miR-3925-5p	HITS-CLIP	23824327
MIRT647844	hsa-miR-4686	HITS-CLIP	23824327
MIRT647843	hsa-miR-520d-5p	HITS-CLIP	23824327
MIRT647842	hsa-miR-524-5p	HITS-CLIP	23824327
MIRT2061630	hsa-miR-103b	CLIP-seq
MIRT2061631	hsa-miR-1251	CLIP-seq
MIRT2061632	hsa-miR-1275	CLIP-seq
MIRT2061633	hsa-miR-1343	CLIP-seq
MIRT2061634	hsa-miR-1976	CLIP-seq
MIRT2061635	hsa-miR-4515	CLIP-seq
MIRT2061636	hsa-miR-4525	CLIP-seq
MIRT2061637	hsa-miR-4639-3p	CLIP-seq
MIRT2061638	hsa-miR-4665-5p	CLIP-seq
MIRT2061639	hsa-miR-4723-5p	CLIP-seq
MIRT2061640	hsa-miR-483-5p	CLIP-seq
MIRT2061641	hsa-miR-570	CLIP-seq
MIRT2061642	hsa-miR-625	CLIP-seq
MIRT2061643	hsa-miR-637	CLIP-seq
MIRT2061644	hsa-miR-668	CLIP-seq
MIRT2061630	hsa-miR-103b	CLIP-seq
MIRT2061632	hsa-miR-1275	CLIP-seq
MIRT2290003	hsa-miR-3180-5p	CLIP-seq
MIRT2290004	hsa-miR-3689a-3p	CLIP-seq
MIRT2290005	hsa-miR-3689c	CLIP-seq
MIRT2290006	hsa-miR-4462	CLIP-seq
MIRT2061635	hsa-miR-4515	CLIP-seq
MIRT2061636	hsa-miR-4525	CLIP-seq
MIRT2290007	hsa-miR-4642	CLIP-seq
MIRT2061638	hsa-miR-4665-5p	CLIP-seq
MIRT2290008	hsa-miR-4720-5p	CLIP-seq
MIRT2061639	hsa-miR-4723-5p	CLIP-seq
MIRT2290009	hsa-miR-4728-5p	CLIP-seq
MIRT2290010	hsa-miR-4799-3p	CLIP-seq
MIRT2061640	hsa-miR-483-5p	CLIP-seq
MIRT2290011	hsa-miR-501-3p	CLIP-seq
MIRT2290012	hsa-miR-502-3p	CLIP-seq
MIRT2290013	hsa-miR-520a-5p	CLIP-seq
MIRT2290014	hsa-miR-525-5p	CLIP-seq
MIRT2061642	hsa-miR-625	CLIP-seq
MIRT2061643	hsa-miR-637	CLIP-seq
MIRT2290015	hsa-miR-767-5p	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004175	Function	Endopeptidase activity	IDA	22354088
GO:0004175	Function	Endopeptidase activity	IEA
GO:0004175	Function	Endopeptidase activity	IGI	21138942
GO:0004175	Function	Endopeptidase activity	IMP	21426348
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IMP	22915595
GO:0005515	Function	Protein binding	IPI	21138942
GO:0005634	Component	Nucleus	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	22354088
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS	21426348
GO:0006465	Process	Signal peptide processing	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IGI	21138942
GO:0006508	Process	Proteolysis	IMP	21426348
GO:0008053	Process	Mitochondrial fusion	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0010821	Process	Regulation of mitochondrion organization	IMP	21355049
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IEA
GO:0016485	Process	Protein processing	IMP	28288130
GO:0016787	Function	Hydrolase activity	IEA
GO:0030162	Process	Regulation of proteolysis	IGI	21355049
GO:0033619	Process	Membrane protein proteolysis	IDA	22354088
GO:0033619	Process	Membrane protein proteolysis	NAS	21426348
GO:0033619	Process	Membrane protein proteolysis	TAS	24522549
GO:0090201	Process	Negative regulation of release of cytochrome c from mitochondria	IEA
GO:1901524	Process	Regulation of mitophagy	IEA
GO:1901524	Process	Regulation of mitophagy	ISS	21355049
GO:1903214	Process	Regulation of protein targeting to mitochondrion	IGI	21355049
GO:1903214	Process	Regulation of protein targeting to mitochondrion	NAS	24522549
GO:2000377	Process	Regulation of reactive oxygen species metabolic process	IMP	21138942
GO:2001243	Process	Negative regulation of intrinsic apoptotic signaling pathway	IEA

MIM	HGNC	e!Ensembl
607858	18253	ENSG00000175193

Q9H300

Protein name

Presenilin-associated rhomboid-like protein, mitochondrial (EC 3.4.21.105) (Mitochondrial intramembrane cleaving protease PARL) [Cleaved into: P-beta (Pbeta)]

Protein function

Required for the control of apoptosis during postnatal growth. Essential for proteolytic processing of an antiapoptotic form of OPA1 which prevents the release of mitochondrial cytochrome c in response to intrinsic apoptotic signals (By similari

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01694	Rhomboid	201 → 354	Rhomboid family	Family

Sequence

MAWRGWAQRGWGCGQAWGASVGGRSCEELTAVLTPPQLLGRRFNFFIQQKCGFRKAPRKV
EPRRSDPGTSGEAYKRSALIPPVEETVFYPSPYPIRSLIKPLFFTVGFTGCAFGSAAIWQ
YESLKSRVQSYFDGIKADWLDSIRPQKEGDFRKEINKWWNNLSDGQRTVTGIIAANVLVF
CLWRVPSLQRTMIRYFTSNPASKVLCSPMLLSTFSHFSLFHMAANMYVLWSFSSSIVNIL
GQEQFMAVYLSAGVISNFVSYVGKVATGRYGPSLGASGAIMTVLAAVCTKIPEGRLAIIF
LPMFTFTAGNALKAIIAMDTAGMILGWKFFDHAAHLGGALFGIWYVTYGHELIWKNREPL
VKIWHEIRTNGPKKGGGSK

Sequence length

379

Interactions

View interactions

	Reactome
			Processing of SMDT1

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leprosy, susceptibility to, 1	Uncertain risk allele	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY, HEREDITARY, LEBER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (21)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	28813580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	18758826		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	18758826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	18758826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	18758826		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25117150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19185381, 20444421, 25117150		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	34314685	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	27876828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	27876828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	19754948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31177901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	17019603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	17019603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	34314685	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	18846214	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	20407791, 20711738, 23973714		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	21355049, 23533695, 26778534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	26101826, 32573439, 36540942	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	28813580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	25354644		★★★★★ ★☆☆☆☆ Found in Text Mining only

PARL (presenilin associated rhomboid like)